Allele Registry

Canonical Allele Identifier: PA658807958

Gene: PKHD1 HGNC NCBI

ClinVar Allele:

489025

ClinVar RCV:

RCV000592223

RCV001086538

RCV003945382

ClinVar Variation:

497601

HGVS (amino-acid)	Matching Registered Transcripts
NP_619639.3:p.Asp3668Tyr	CA3850975 NM_138694.3:c.11002G>T